GAUCHERS DISEASE - A GENETIC DISEASE DETECTED IN SKIN FIBROBLAST CULTURES

被引：35

作者：

DANES, BS

BEARN, AG

机构：

[1] Division of Human Genetics, Department of Medicine, Cornell University Medical College, New York

来源：

SCIENCE | 1968年 / 161卷 / 3848期

关键词：

D O I：

10.1126/science.161.3848.1347

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Skin fibroblasts from three adult patients with chronic noncerebral Gaucher's disease, three children of one of the patients, three parents, and six normal individuals were grown in cell culture. Giant fibroblasts containing metachromatic material were seen in all cultures derived from affected individuals and heterozygous carriers but not in those derived from normal individuals.

引用

页码：1347 / &

共 22 条

[1] ARONSON SM, 1962, CEREBRAL SPHINGOLIPI, P327
[2] BIGNARDI C, 1940, ATTI SOC NAT MAT MOD, V71, P59
[3] BIGNARDI C, 1940, B SOC ITAL BIOL SPER, V15, P593
[4] BLOEM TF, 1936, QUART J MED, V29, P517
[5] METABOLISM OF GLUCOCEREBROSIDES .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHERS DISEASE
BRADY, RO
KANFER, JN
SHAPIRO, D
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1965, 18 (02) : 221 - &
[6] DEMONSTRATION OF A DEFICIENCY OF GLUCOCEREBROSIDE-CLEAVING ENZYME IN GAUCHERS DISEASE
BRADY, RO
KANFER, JN
BRADLEY, RM
SHAPIRO, D
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1966, 45 (07) : 1112 - &
[7] COLLIER WA, 1895, T PATHOL SOC LOND, V46, P148
[8] DANES BS, 1968, LANCET, V1, P1061
[9] DANES BS, 1967, LANCET, V1, P241
[10] HURLERS SYNDROME - A GENETIC STUDY IN CELL CULTURE
DANES, BS
BEARN, AG
[J]. JOURNAL OF EXPERIMENTAL MEDICINE, 1966, 123 (01) : 1 - &

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